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Genetic dissection of Pax6 dosage requirements in the developing mouse eye

Davis-Silberman, Noa ; Kalich, Tomer ; Oron-Karni, Varda ; Marquardt, Till ; Kroeber, Markus ; Tamm, Ernst R. ; Ashery-Padan, Ruth



Zusammenfassung

Haploinsufficiency of the transcription factor Pax6/PAX6 has been implicated in a number of congenital eye disorders in humans and mice, such as aniridia and Small-eye, which affect the development and function of the lens, cornea, anterior eye segment and neuroretina. However, the widespread distribution of Pax6/PAX6 protein within the developing and adult eye preclude the identification and ...

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